The ownership of our genomic information is being challenged. The stakes for human health and identity are enormous.
By Jorge Contreras
Until 2013, much of the information carried within your DNA was owned by somebody else. People were dying of cancer because they were not legally allowed to test their own genetic code for deadly mutations. For the time being, you are back in control. But given the huge profits at stake, that may not be the case for long.
Intense lobbying and political maneuvering are under way in the United States right now over the lucrative right to read this genetic code and to tell us what it means for our health and our identities. Doctors’ ability to diagnose and treat hundreds of medical conditions—and your access to those critical services—could be at stake.
The implications are huge but the issues involved are highly technical, straddling the worlds of biotechnology and U.S. patent law. As a result, few people are up in arms about the possibility that not only control but ownership of the information encoded within our genes could be taken away once more.
The fundamental biological coding in our DNA is essential to biomedical research, public health, and self-knowledge. The absence of property interests in genomic information has resulted in a wide range of benefits in the United States, from lower prices for cancer screening to rapid research on COVID-19 vaccines. We shouldn’t forfeit these benefits to enrich a few companies. Sequences of naturally occurring genomic material should remain in the public domain, free from claims of ownership.
The history of this struggle is crucial for understanding the current battle. In the late 1980s, researchers who discovered associations between genetic variants and diseases like cystic fibrosis, Huntington’s disease, and cancer began to apply for patents. The U.S. Patent and Trademark Office (PTO) enthusiastically granted these researchers, and their employers, exclusive rights over increasingly large swaths of the human genome. This enabled companies to monopolize the diagnosis of genetic variants covering a wide range of hereditary health conditions, hindering research and pricing potentially life-saving tests beyond the reach of many patients.
Think about it for a moment. We each carry within our cells thousands of sequences of DNA, known as genes; each gene contains millions of units, called bases, that determine how our bodies are made and function. But some of those genes, or at least the information in them, were owned by someone else—the company, university, or researcher that was the first to patent them. The very DNA that makes us human was being parceled out like lots in a housing development. Without the permission of the patent owner, you couldn’t learn what secrets your DNA held, even if that information could save your life.
In 2013, the U.S. Supreme Court changed all this, ruling that naturally occurring DNA sequences are not patentable. But in the years since, the biotech industry and its lawyers have worked tirelessly to overturn the Court’s decision. In 2019 members of Congress drafted a bill that would have returned us to the days of gene patenting. Though that bill failed to advance, last summer the same legislators asked the PTO to initiate a public inquiry into the potential benefits of renewed DNA patenting, a clear prelude to further congressional action.
The lawsuit that led to the elimination of gene patents in the U.S. was brought by the American Civil Liberties Union and the Public Patent Foundation in 2009. They sued on behalf of a group of 20 organizations and individuals who claimed to have been injured by the existence of these patents. One the plaintiffs was Lisbeth Ceriani, a 42-year old single mom from Newton, Massachusetts, who received a diagnosis of breast cancer in 2008. Ceriani worked two part-time jobs and relied on Medicaid for health coverage. Given her relatively young age and the aggressive form of her cancer, Ceriani’s oncologist suspected that it might be hereditary, arising from defects in genes known as BRCA1 and BRCA2. If that were the case, Ceriani would need to have her ovaries and fallopian tubes removed to prevent ovarian cancer, another likely result of the BRCA mutations. What’s more, if Ceriani did carry a harmful BRCA mutation, her young daughter would also be at risk and, once she got older, would need to consider these measures as well.
Despite these medical recommendations, Ceriani could not get tested for the BRCA mutations. There was just one company in the United States that offered the test, Myriad Genetics, which controlled the patents on the BRCA genes. Myriad charged more than $3,000 for testing, but the Medicaid carrier in Massachusetts, MassHealth, was unwilling to pay more than $1,600. Ceriani could either pay Myriad’s price or not get tested. There was no other choice.
Ceriani was not alone—breast cancer is tragically common, affecting about one in eight American women. According to a 2021 report, there are some 13,000 oncologists in the United States. Yet between 1999 and 2013, there was only one provider of BRCA testing. Why? Because the BRCA genes were patented, and Myriad Genetics controlled those patents.
A patent gives its owner the exclusive right to make, use, and sell a novel invention throughout the country. All types of inventions can be patented: machines, processes, articles of manufacture, and even new compositions of matter. Surprisingly, like advanced new materials and chemical compounds, genes isolated from the body were treated as new compositions of matter that could be patented. Like the holder of a patent on a new carbon fiber or gasoline additive, Myriad had a 17-year monopoly on all uses of the BRCA genes. This expansive right included the ability not only to conduct diagnostic tests, but also to develop and manufacture test kits, drugs, and anything else requiring the use or replication of these genes. Myriad leveraged its patents to lock up the market for BRCA testing by threatening to sue any other lab or clinic that offered a test. As a result, many women were unable to obtain testing that literally could save their lives.
The BRCA genes were not the only genes patented in the United States. From the early 1990s through the mid 2000s, thousands of human genes linked to diseases ranging from asthma to cystic fibrosis were patented. In 2005, MIT researchers estimated that nearly 20 percent of all known human genes were covered by patents, and diagnostic tests for a wide range of genetic disorders were locked up by individual companies. None of these companies had competitors and could charge whatever they wished to look at a patient’s DNA and tell her whether she carried deadly defects in her genetic code.
This all changed in 2013 with the Supreme Court’s unanimous decision in Association for Molecular Pathology v. Myriad Genetics, the case involving Ceriani. The BRCA litigation was lengthy and complex. The Patent Office argued that patenting human genes that were removed from the body (“isolated and purified”) was perfectly legitimate, since genes in the body are attached to much longer chains of DNA called chromosomes, while genes in their stand-alone, isolated form exist only in the laboratory. They are, the argument went, like any other novel composition of matter created by humans—things like polyester, ultralight steel, and superglue—and thus patentable. The plaintiffs, on the other hand, argued that human genes, even when removed from the body, are not new compositions of matter, but products of nature that are ineligible for patent protection. Thus, like a plant discovered at the bottom of the ocean or in the depths of a rain forest, these naturally occurring substances should remain in the public domain so that they are accessible to all. In simple terms, the plaintiffs said, nobody should own our genes other than ourselves.
After four long years, the Supreme Court agreed (mostly) with the plaintiffs. Its decision enabled women at risk for hereditary breast and ovarian cancer to access their own genetic codes and learn whether they and their daughters, sisters, and other relatives carried cancer-causing mutations. Literally overnight, the price of BRCA testing dropped by half, and today direct-to-consumer services like 23andMe can identify potentially deadly BRCA mutations and a host of other genetic risk factors at a modest price, generally less than $200.
The Court’s decision in Myriad eliminated patents not only on the BRCA genes, but on all naturally occurring genomic sequences in humans as well as other living organisms. (While patents are still available to protect biomedical innovations like vaccines, drugs, and test kits, no one can claim ownership over basic genetic sequences.) This result has had lasting and important repercussions. For example, research and collaboration on viral outbreaks such as MERS, SARS, and H5N1 were stymied by races to patent the viruses’ genetic sequences. But this did not occur with SARS-CoV-19, the virus responsible for COVID-19, the genomic code for which was released to public databases and made freely available to researchers around the world within a week of its discovery.
Today, however, the freedom to look inside our own DNA could be at risk. Many in the biotechnology industry have been critical of the Myriad decision and have worked tirelessly to overturn it and other key Supreme Court decisions limiting patents. Critics of the Court’s patent eligibility decisions claim that unless the reach of patents is restored to its prior broad dimensions, biomedical innovation will be stifled, research will not be funded, and lives will be lost. In 2019, with strong industry backing, Senators Chris Coons (D-DE) and Thom Tillis (R-NC) drafted a bipartisan bill that would have overridden all judicial decisions limiting the patentability of natural phenomena. If enacted, their legislation once again would have authorized the patenting of genomic sequences in human BRCA genes, the SARS-CoV-2 virus, and other products of nature that are rightfully in the public domain.
The 2019 bill was opposed by the ACLU and a host of advocacy groups, prominent scientists, and forward-thinking companies. Though the bill did not advance out of committee, two years later a group of legislators and industry insiders revived and escalated the campaign to expand the scope of patent protection. In the summer of 2021, at the request of Senators Tillis, Coons, and others, the PTO issued a formal call for public comment on the ways that judicial decisions have “impacted investment and innovation, particularly in critical technologies like . . . precision medicine, diagnostic methods, and pharmaceutical treatments.” It received 145 responses, many in favor of expanding patent protection for products of nature. This effort seems designed to create a public record of opposition to the Supreme Court’s limitations on such patents. It is likely that in the next Congressional session, biotech lobbyists will use this study to argue that insufficient patent protection is responsible for flagging investment, declining innovation, and the loss of ground to foreign competition.
Despite these complaints, a lack of patents is not the problem. Though there was a dip in patents in 2020 due to COVID, 2019 saw more patents issued than in any other year on record. Estimates are that we’ll see the numbers increase again rapidly as we exit the pandemic.
But the patent laws were never intended to allow private companies to control the use of substances found in nature. These are simply not “inventions” that the laws were designed to protect. The Supreme Court’s sensible limitations on these patents have resulted in dramatically lower pricing for genetic diagnostic tests, as well as unprecedented global research cooperation on COVID and other diseases. And far from killing innovation, investment in the biotechnology sector has grown substantially. According to McKinsey & Co., biotech stocks appreciated during 2020 at more than twice the rate of the S&P 500.
Let’s remember the hard lessons learned from the BRCA wars and the COVID-19 pandemic: A return to the days of patenting naturally occurring genetic sequences and other products of nature would enrich a few self-interested parties at the expense of public health and human life. In the end, no one should own our genomes other than ourselves.
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